A familial case of renal cell carcinoma and a t(2;3) chromosome translocation.
Cytogenetic analysis was performed on peripheral blood lymphocytes of members of a family with inherited renal cell cancer. Four family members in three generations developed multiple/bilateral renal cell carcinomas of the clear cell type. In one additional case a bladder carcinoma was diagnosed. In two of the renal cell carcinoma patients a constitutional t(2;3)(q35;q21) was encountered, whereas in the two other (deceased) patients the presence of this translocation could be deduced. Also, the bladder cancer patient was found to be positive for t(2;3)(q35;q21). This is the third familial renal cell carcinoma-associated chromosomal translocation ever described. The previously reported cases also involved chromosome 3, thereby supporting the notion that this chromosome may play a crucial role in the development of renal cell carcinomas. Interestingly, the translocation breakpoints in these three families map at different locations, suggesting that multiple genes on chromosome 3 may be involved.
Koolen
M I
MI
Department of Internal Medicine, Bosch Medical Center, Den Bosch, The Netherlands.
van der Meyden
A P
AP
Bodmer
D
D
Eleveld
M
M
van der Looij
E
E
Brunner
H
H
Smits
A
A
van den Berg
E
E
Smeets
D
D
Geurts van Kessel
A
A
D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014178:Translocation, Genetic